Incidental Mutation 'R6600:A430033K04Rik'
| ID |
525188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A430033K04Rik
|
| Ensembl Gene |
ENSMUSG00000056014 |
| Gene Name |
RIKEN cDNA A430033K04 gene |
| Synonyms |
|
| MMRRC Submission |
044724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6600 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138621121-138647179 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
ACGC to ACGCGC
at 138645710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069862]
[ENSMUST00000198958]
|
| AlphaFold |
E9Q8G5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069862
|
| SMART Domains |
Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
16 |
76 |
6.23e-34 |
SMART |
|
ZnF_C2H2
|
261 |
280 |
1.01e2 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
2.12e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198958
|
| SMART Domains |
Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
16 |
76 |
2.7e-36 |
SMART |
|
ZnF_C2H2
|
261 |
280 |
4.2e-1 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
6.4e-6 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
1.8e-3 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
3e-5 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
2.1e-5 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
1.5e-5 |
SMART |
|
ZnF_C2H2
|
623 |
643 |
2.7e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
C |
T |
5: 121,639,530 (GRCm39) |
C505Y |
probably damaging |
Het |
| Adam24 |
C |
A |
8: 41,133,587 (GRCm39) |
H352N |
probably damaging |
Het |
| Bcl6b |
A |
T |
11: 70,119,954 (GRCm39) |
L11Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 143,025,702 (GRCm39) |
V165E |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,836,192 (GRCm39) |
N852S |
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,591 (GRCm39) |
C110R |
probably damaging |
Het |
| Cdk2ap1rt |
A |
C |
11: 48,717,115 (GRCm39) |
V21G |
probably damaging |
Het |
| Clasrp |
T |
A |
7: 19,324,207 (GRCm39) |
K223* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,887,583 (GRCm39) |
N951K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,491 (GRCm39) |
T171A |
probably benign |
Het |
| Dse |
A |
G |
10: 34,028,537 (GRCm39) |
I851T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,611,135 (GRCm39) |
I413F |
probably damaging |
Het |
| Flywch2 |
C |
A |
17: 23,997,084 (GRCm39) |
G109V |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,393,925 (GRCm39) |
D787G |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,860,482 (GRCm39) |
R72* |
probably null |
Het |
| Hspd1 |
T |
C |
1: 55,117,777 (GRCm39) |
I494V |
probably benign |
Het |
| Limch1 |
T |
C |
5: 66,903,281 (GRCm39) |
V10A |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,569 (GRCm39) |
S658F |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,938 (GRCm39) |
I157T |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,598,101 (GRCm39) |
V186A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 141,965,039 (GRCm39) |
R126G |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,824,259 (GRCm39) |
R311* |
probably null |
Het |
| Ptcd3 |
T |
C |
6: 71,860,530 (GRCm39) |
Y559C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,786,543 (GRCm39) |
S852P |
probably damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,208,850 (GRCm39) |
M259K |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,862,676 (GRCm39) |
L84P |
probably benign |
Het |
| Slf1 |
A |
C |
13: 77,231,655 (GRCm39) |
S575A |
probably benign |
Het |
| Tjap1 |
T |
C |
17: 46,570,924 (GRCm39) |
N173S |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,803,781 (GRCm39) |
M1K |
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,745,880 (GRCm39) |
K851N |
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,721,948 (GRCm39) |
R298S |
possibly damaging |
Het |
|
| Other mutations in A430033K04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:A430033K04Rik
|
APN |
5 |
138,645,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00336:A430033K04Rik
|
APN |
5 |
138,645,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02615:A430033K04Rik
|
APN |
5 |
138,644,402 (GRCm39) |
nonsense |
probably null |
|
|
IGL03354:A430033K04Rik
|
APN |
5 |
138,645,041 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0172:A430033K04Rik
|
UTSW |
5 |
138,645,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1769:A430033K04Rik
|
UTSW |
5 |
138,644,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4515:A430033K04Rik
|
UTSW |
5 |
138,646,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:A430033K04Rik
|
UTSW |
5 |
138,645,119 (GRCm39) |
nonsense |
probably null |
|
|
R4964:A430033K04Rik
|
UTSW |
5 |
138,645,119 (GRCm39) |
nonsense |
probably null |
|
|
R5389:A430033K04Rik
|
UTSW |
5 |
138,644,559 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5769:A430033K04Rik
|
UTSW |
5 |
138,644,595 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6128:A430033K04Rik
|
UTSW |
5 |
138,646,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:A430033K04Rik
|
UTSW |
5 |
138,645,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:A430033K04Rik
|
UTSW |
5 |
138,637,831 (GRCm39) |
small deletion |
probably benign |
|
|
R6774:A430033K04Rik
|
UTSW |
5 |
138,644,712 (GRCm39) |
missense |
probably benign |
|
|
R7098:A430033K04Rik
|
UTSW |
5 |
138,644,784 (GRCm39) |
missense |
probably benign |
|
|
R7217:A430033K04Rik
|
UTSW |
5 |
138,645,188 (GRCm39) |
missense |
probably benign |
|
|
R7269:A430033K04Rik
|
UTSW |
5 |
138,645,014 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7429:A430033K04Rik
|
UTSW |
5 |
138,634,445 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7442:A430033K04Rik
|
UTSW |
5 |
138,645,509 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7718:A430033K04Rik
|
UTSW |
5 |
138,646,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8007:A430033K04Rik
|
UTSW |
5 |
138,644,901 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8170:A430033K04Rik
|
UTSW |
5 |
138,645,315 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8348:A430033K04Rik
|
UTSW |
5 |
138,634,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:A430033K04Rik
|
UTSW |
5 |
138,645,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8520:A430033K04Rik
|
UTSW |
5 |
138,644,968 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8778:A430033K04Rik
|
UTSW |
5 |
138,645,149 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8858:A430033K04Rik
|
UTSW |
5 |
138,638,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9147:A430033K04Rik
|
UTSW |
5 |
138,644,547 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9148:A430033K04Rik
|
UTSW |
5 |
138,644,547 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9418:A430033K04Rik
|
UTSW |
5 |
138,645,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:A430033K04Rik
|
UTSW |
5 |
138,644,793 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9661:A430033K04Rik
|
UTSW |
5 |
138,645,451 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACGTTTCAAGCCCCACG -3'
(R):5'- GCATCAGTTGGGACTTACGAGAG -3'
Sequencing Primer
(F):5'- GTCTGAAGACTTTCTCCCACAAG -3'
(R):5'- CTTACGAGAGAAAGCTTTCCTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation